ESPEYB15 12 Type 2 Diabetes, Metabolic Syndrome and Lipid Metabolism Concepts revised (1 abstracts)
12.6 Monogenic Diabetes in Overweight and Obese Youth Diagnosed with Type 2 Diabetes: The TODAY Clinical Trial
Kleinberger JW , Copeland KC , Gandica RG , Haymond MW , Levitsky LL , Linder B , Shuldiner AR , Tollefsen S , White NH , Pollin TI & for the for the TODAY Study Group
To read the full abstract: Genetics in Medicine 2018;20:583-590
Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of monogenic forms of diabetes characterized by pancreatic beta-cell dysfunction, with autosomal dominant inheritance. Fourteen distinct MODY genetic subtypes have been identified. A definitive diagnosis of MODY is very challenging because of similar or overlapping clinical phenotypes between diabetes subtypes.
Here, Kleinberger et al. assessed the prevalence of MODY in adolescents aged 10-17 years diagnosed with T2DM according to American Diabetes Association criteria. The findings show that a considerable proportion of youth diagnosed with T2DM actually have undiagnosed MODY. Furthermore, clinical and laboratory data such as degree of obesity and C- peptide level could not differentiate between MODY and T2DM. Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment and lifestyle. The current study demonstrates the importance of distinguishing the different types of diabetes. Seven patients with Glucokinase MODY were unnecessarily treated, whereas those with HNF4A-MODY and HNF1A-MODY failed treatment and could benefit if treated with sulfonylurea drugs, rather than metformin or rosiglitazone. The findings of this study indicate the importance of genetic testing and proper genetic interpretation for providing optimal treatment to youth with diabetes.
Volume 15
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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